ClinVar Genomic variation as it relates to human health
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
Germline
Classification
(4)
Uncertain significance
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
DHX37 | - | - |
GRCh38 GRCh37 |
430 | 464 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
May 30, 2019 | RCV000853099.2 | |
Pathogenic (1) |
|
Feb 5, 2020 | RCV000991237.5 | |
Neurodevelopmental disorders
|
Likely pathogenic (1) |
|
- | RCV001261671.2 |
Uncertain significance (1) |
|
Oct 6, 2023 | RCV003334454.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024